Mutagenetix > Incidental Mutation

Incidental Mutation 'R0990:Scel'

97662

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

039110-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103750778-103850233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103819268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 354 (V354I)

Ref Sequence

ENSEMBL: ENSMUSP00000093233 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095576] [ENSMUST00000227322]

AlphaFold

Q9EQG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095576
AA Change: V354I

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: V354I

Domain	Start	End	E-Value	Type
low complexity region	111	131	N/A	INTRINSIC
low complexity region	159	178	N/A	INTRINSIC
internal_repeat_1	204	327	9.24e-7	PROSPERO
internal_repeat_1	378	505	9.24e-7	PROSPERO
low complexity region	525	537	N/A	INTRINSIC
LIM	584	642	2.23e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227322

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.1%
20x: 86.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy7	T	C	8: 89,052,080 (GRCm39)	V916A	possibly damaging	Het
Ank2	T	C	3: 126,728,315 (GRCm39)	I759M	possibly damaging	Het
Arhgap32	A	G	9: 32,166,677 (GRCm39)	D438G	probably damaging	Het
Arhgef12	T	C	9: 42,883,677 (GRCm39)	Y1285C	probably benign	Het
Cfap65	A	G	1: 74,960,678 (GRCm39)	V764A	possibly damaging	Het
Cog8	T	A	8: 107,779,119 (GRCm39)		probably null	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Fbxo24	T	C	5: 137,616,701 (GRCm39)	N394S	probably damaging	Het
Gm9938	A	G	19: 23,701,956 (GRCm39)		probably benign	Het
Iars2	A	G	1: 185,050,824 (GRCm39)	F422L	probably damaging	Het
Marchf3	A	T	18: 56,940,870 (GRCm39)	C87S	probably damaging	Het
Mettl2	T	A	11: 105,028,570 (GRCm39)	Y307*	probably null	Het
Mlh3	T	C	12: 85,314,539 (GRCm39)	D549G	probably benign	Het
Muc4	A	G	16: 32,752,722 (GRCm38)	T867A	probably benign	Het
Nup210l	A	T	3: 90,119,232 (GRCm39)	T1852S	probably benign	Het
Or5aq1	T	A	2: 86,966,086 (GRCm39)	H193L	possibly damaging	Het
Pdk4	A	T	6: 5,485,577 (GRCm39)	S371T	probably benign	Het
Pkm	A	G	9: 59,585,379 (GRCm39)	T454A	probably damaging	Het
Satb2	G	A	1: 56,889,343 (GRCm39)	S340F	probably damaging	Het
Setdb1	T	C	3: 95,247,576 (GRCm39)	T440A	probably benign	Het
Sgk1	T	C	10: 21,872,985 (GRCm39)	F230S	probably damaging	Het
Slc22a23	A	T	13: 34,379,450 (GRCm39)	I439N	probably damaging	Het
Slc9a5	G	A	8: 106,086,078 (GRCm39)	R615Q	probably damaging	Het
Smad1	T	A	8: 80,070,417 (GRCm39)	I374F	probably damaging	Het
Tgm4	A	G	9: 122,875,576 (GRCm39)	E143G	probably benign	Het
Vmn2r53	A	G	7: 12,315,429 (GRCm39)	S797P	probably benign	Het

Other mutations in Scel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Scel	APN	14	103,767,431 (GRCm39)	missense	probably benign	0.01
IGL00913:Scel	APN	14	103,819,245 (GRCm39)	missense	probably benign	0.35
IGL01086:Scel	APN	14	103,849,827 (GRCm39)	missense	probably benign	0.05
IGL01352:Scel	APN	14	103,770,774 (GRCm39)	missense	possibly damaging	0.54
IGL01396:Scel	APN	14	103,845,530 (GRCm39)	splice site	probably benign
IGL01954:Scel	APN	14	103,840,678 (GRCm39)	splice site	probably benign
IGL02064:Scel	APN	14	103,770,762 (GRCm39)	missense	probably damaging	0.98
IGL02186:Scel	APN	14	103,802,257 (GRCm39)	missense	probably benign	0.23
IGL02475:Scel	APN	14	103,774,444 (GRCm39)	missense	possibly damaging	0.95
IGL02926:Scel	APN	14	103,813,683 (GRCm39)	nonsense	probably null
IGL03122:Scel	APN	14	103,836,842 (GRCm39)	missense	possibly damaging	0.66
IGL03135:Scel	APN	14	103,823,950 (GRCm39)	missense	probably benign	0.02
PIT4585001:Scel	UTSW	14	103,829,804 (GRCm39)	missense	possibly damaging	0.90
R0346:Scel	UTSW	14	103,767,420 (GRCm39)	missense	probably damaging	1.00
R0394:Scel	UTSW	14	103,799,954 (GRCm39)	missense	probably benign	0.15
R0418:Scel	UTSW	14	103,840,690 (GRCm39)	missense	probably benign
R0635:Scel	UTSW	14	103,820,575 (GRCm39)	critical splice donor site	probably null
R0815:Scel	UTSW	14	103,823,916 (GRCm39)	missense	possibly damaging	0.83
R0863:Scel	UTSW	14	103,823,916 (GRCm39)	missense	possibly damaging	0.83
R1084:Scel	UTSW	14	103,802,279 (GRCm39)	critical splice donor site	probably null
R1641:Scel	UTSW	14	103,770,752 (GRCm39)	missense	probably damaging	1.00
R2001:Scel	UTSW	14	103,848,226 (GRCm39)	missense	possibly damaging	0.66
R2002:Scel	UTSW	14	103,779,421 (GRCm39)	missense	probably damaging	1.00
R2341:Scel	UTSW	14	103,845,606 (GRCm39)	missense	possibly damaging	0.92
R3425:Scel	UTSW	14	103,845,542 (GRCm39)	missense	possibly damaging	0.92
R3836:Scel	UTSW	14	103,829,822 (GRCm39)	missense	possibly damaging	0.66
R4035:Scel	UTSW	14	103,767,440 (GRCm39)	missense	probably damaging	1.00
R4197:Scel	UTSW	14	103,836,836 (GRCm39)	missense	probably damaging	0.97
R4737:Scel	UTSW	14	103,809,473 (GRCm39)	missense	possibly damaging	0.79
R4801:Scel	UTSW	14	103,820,536 (GRCm39)	missense	probably benign	0.01
R4802:Scel	UTSW	14	103,820,536 (GRCm39)	missense	probably benign	0.01
R5369:Scel	UTSW	14	103,823,929 (GRCm39)	missense	probably benign	0.00
R5555:Scel	UTSW	14	103,839,642 (GRCm39)	missense	probably benign	0.27
R5582:Scel	UTSW	14	103,820,575 (GRCm39)	critical splice donor site	probably benign
R5931:Scel	UTSW	14	103,843,060 (GRCm39)	nonsense	probably null
R5978:Scel	UTSW	14	103,766,690 (GRCm39)	splice site	probably null
R6045:Scel	UTSW	14	103,829,649 (GRCm39)	missense	probably benign	0.12
R6062:Scel	UTSW	14	103,822,572 (GRCm39)	missense	possibly damaging	0.82
R6218:Scel	UTSW	14	103,809,478 (GRCm39)	missense	probably benign	0.12
R6225:Scel	UTSW	14	103,829,420 (GRCm39)	missense	probably benign	0.27
R7102:Scel	UTSW	14	103,781,268 (GRCm39)	nonsense	probably null
R7349:Scel	UTSW	14	103,781,315 (GRCm39)	missense	probably benign	0.11
R8376:Scel	UTSW	14	103,809,451 (GRCm39)	missense	probably benign	0.02
R8924:Scel	UTSW	14	103,829,807 (GRCm39)	missense	possibly damaging	0.66
R9014:Scel	UTSW	14	103,822,575 (GRCm39)	missense	probably benign
R9130:Scel	UTSW	14	103,770,746 (GRCm39)	missense	probably benign	0.05
R9135:Scel	UTSW	14	103,839,626 (GRCm39)	missense	probably benign
R9179:Scel	UTSW	14	103,811,836 (GRCm39)	missense	possibly damaging	0.79
R9614:Scel	UTSW	14	103,843,032 (GRCm39)	missense	probably damaging	1.00
R9638:Scel	UTSW	14	103,779,409 (GRCm39)	missense	possibly damaging	0.89
R9672:Scel	UTSW	14	103,836,838 (GRCm39)	missense	possibly damaging	0.82
R9719:Scel	UTSW	14	103,809,442 (GRCm39)	critical splice acceptor site	probably null
X0026:Scel	UTSW	14	103,829,429 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TCACACATGTTGGAGGTTGCTCAC -3'
(R):5'- TCCAGAAGCATTCATCGCTTTCCTG -3'

Sequencing Primer
(F):5'- AGCCAATGTCTGCATAAGTCTC -3'
(R):5'- GAGACTGTGTAACTATTGCTCCAG -3'

Posted On

2014-01-05